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Cell. 2017 Jun 15;169(7):1177-1186. doi: 10.1016/j.cell.2017.05.038.

An Expanded View of Complex Traits: From Polygenic to Omnigenic.

Author information

1
Department of Genetics, Stanford University, Stanford, CA 94305, USA. Electronic address: eaboyle@stanford.edu.
2
Department of Genetics, Stanford University, Stanford, CA 94305, USA. Electronic address: yangili@stanford.edu.
3
Department of Genetics, Stanford University, Stanford, CA 94305, USA; Department of Biology, Stanford University, Stanford, CA 94305, USA; Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA. Electronic address: pritch@stanford.edu.

Abstract

A central goal of genetics is to understand the links between genetic variation and disease. Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology. But for complex traits, association signals tend to be spread across most of the genome-including near many genes without an obvious connection to disease. We propose that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways. We refer to this hypothesis as an "omnigenic" model.

PMID:
28622505
PMCID:
PMC5536862
DOI:
10.1016/j.cell.2017.05.038
[Indexed for MEDLINE]
Free PMC Article

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